A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia
نویسندگان
چکیده
Background Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney. Conclusion We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.
منابع مشابه
Successful complex management of a congenital diaphragmatic hernia--a case report.
Congenital diaphragmatic hernia is a very serious congenital defect associated with high mortality rate. The syndrome is characterized by migration of abdominal viscera to thoracic cavity a variable degree of pulmonary hypoplasia associated with pulmonary hypertension caused by alteration of pulmonary vessels diameter increased muscularisation of pulmonary arteries and decreased compliance of t...
متن کاملSilent Tachypnoea in a Neonate: A Rare Presentation of Right Side Bochdalek Hernia with Intrathoracic Kidney
Congenital diaphragmatic hernia (CDH) is a rare condition. The reported incidence of intrathoracic renal ectopia due to CDH is also rare. A right-sided thoracic kidney is much less common due to the location of the liver. Isolated intrathoracic kidney is usually asymptomatic and diagnosed incidentally on chest imaging. The authors report on a 21days old female infant with late-presenting right ...
متن کاملCongenital thoracic malformations in pediatric patients: two decades of experience
Congenital thoracic malformations constitute a heterogeneous group of developmental disorders, involving lung parenchyma, arterial supply, and venous drainage.(1) Their etiology is embryologic, and their clinical presentation and severity vary according to the degree of pulmonary involvement and their location in the thoracic cavity.(2) They can be asymptomatic—their diagnosis being based on in...
متن کاملAsymptomatic Diaphragmatic Hernia Diagnosed after Six Years Following Esophagectomy: A Case Report
Diaphragmatic hernia, secondary to transhiatal esophagectomy, appears to be a relatively infrequent diagnosis. Patients may be asymptomatic or present with various symptoms. Diagnosis of this condition requires a high index of suspicion. The most common cause of diaphragmatic hernia is widened esophageal hiatus during surgery; therefore, narrowing the hiatus can prevent conduit herniation. Here...
متن کاملHepatic pulmonary fusion: a rare association of right-sided congenital diaphragmatic hernia
Hepatic pulmonary fusion is a rare association of rightsided congenital diaphragmatic hernia. The repair and reduction in this case depends on the extent of fusion to the lungs and the associated mediastinal structures [1]. This case has thumb and index finger syndactyly and multiple clefts in vertebrae besides hepatic pulmonary fusion which makes it unique, the first of its kind. This is a cas...
متن کامل